I105V (p.Ile105Val) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
I105V (p.Ile105Val) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
I105V (p.Ile105Val) variant details
- p.Ile105Val
- TOPMed rs1051839069
- gnomAD rs1051839069
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.19
- MetaSVM -0.97
- CADD 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available